Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909242
rs121909242 		0.925 0.080 3 12416825 missense variant A/C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121909242
rs121909242 		0.925 0.080 3 12416825 missense variant A/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121909243
rs121909243 		1.000 0.080 3 12416923 stop gained A/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121909245
rs121909245 		0.925 0.080 3 12392701 missense variant T/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121909246
rs121909246 		1.000 0.080 3 12392713 missense variant C/T snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1378972597
rs1378972597 		1.000 0.080 3 12416855 missense variant T/C snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs148195788
rs148195788 		1.000 0.080 3 12392714 missense variant G/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553638903
rs1553638903 		1.000 0.080 3 12349804 intron variant A/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553638909
rs1553638909 		1.000 0.080 3 12349824 intron variant A/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553643326
rs1553643326 		1.000 0.080 3 12381481 missense variant A/G snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553647989
rs1553647989 		1.000 0.080 3 12405897 missense variant G/A snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553650477
rs1553650477 		1.000 0.080 3 12416893 frameshift variant CTTGA/- delins
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553653993
rs1553653993 		1.000 0.080 3 12433979 missense variant T/C snv
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1800571
rs1800571 		0.925 0.080 3 12381349 missense variant C/A snv 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1800571
rs1800571 		0.925 0.080 3 12381349 missense variant C/A snv 1.4E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C1832253
Disease: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF
INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF 		0.700 0
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C1832251
Disease: BODY MASS INDEX, MODIFIER OF
BODY MASS INDEX, MODIFIER OF 		0.700 0
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C4016735
Disease: DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF 		0.700 0
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C1832250
Disease: OBESITY, MODIFIER OF
OBESITY, MODIFIER OF 		0.700 0
dbSNP: rs28936407
rs28936407 		0.925 0.080 3 12416831 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs28936407
rs28936407 		0.925 0.080 3 12416831 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587776687
rs587776687 		1.000 0.080 3 12392683 frameshift variant A/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs72551362
rs72551362 		0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs770557781
rs770557781 		1.000 0.080 3 12433986 frameshift variant C/- delins 8.0E-06
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs948820149
rs948820149 		1.000 0.080 3 12350786 intron variant A/C;G snv 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0